regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
LHPP_chr10_124456823_124619141 | 124507284 | G | GGGTAGGG others(2692): Show |
intron_variant | MODIFIER | HG01257.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0135 | 1 | 260 | 0.0039 | 2699 | c.624 others(2716): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
SAR1B_chr5_134596149_134637828 | 134619330 | C | CAAAAAAA others(2692): Show |
intron_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0103 | 1 | 322 | 0.0031 | 2699 | c.178 others(2716): Show |
SAR1B | ENSG00000152700.14 | transcript | ENST00000402673.7 | protein_coding | 3/6 | chr5 | TogoVar | ||||||
SLC12A8_chr3_125077644_125217748 | 125089785 | C | CTCAAGCA others(2692): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0176 | 1 | 362 | 0.0028 | 2699 | c.192 others(2718): Show |
SLC12A8 | ENSG00000221955.11 | transcript | ENST00000469902.6 | protein_coding | 12/13 | chr3 | TogoVar | ||||||
SLC25A18_chr22_17558498_17595995 | 17577684 | C | CATTCTCC others(2692): Show |
intron_variant | MODIFIER | HG01169.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0259 | 1 | 410 | 0.0024 | 2699 | c.-20 others(2718): Show |
SLC25A18 | ENSG00000182902.14 | transcript | ENST00000327451.11 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
STON2_chr14_81255652_81405324 | 81320429 | G | GACCATTT others(2692): Show |
intron_variant | MODIFIER | HG02698.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0083 | 1 | 264 | 0.0038 | 2699 | c.742 others(2716): Show |
STON2 | ENSG00000140022.14 | transcript | ENST00000614646.5 | protein_coding | 5/7 | chr14 | TogoVar | ||||||
STON2_chr14_81255652_81405324 | 81320429 | G | GACCATTT others(2692): Show |
intron_variant | MODIFIER | HG00621.hp1 HG02257.hp1 HG02630.hp1 others(8): Show |
a0001a0012 | a0001c0001a0012c0015 | a0001c0001t0002a0001c0001t0008a0001c0001t0009others(4): Show | a0001c0001t0002g0009a0001c0001t0002g0036a0001c0001t0002g0159others(8): Show | 11 | 264 | 0.0417 | 2699 | c.742 others(2716): Show |
STON2 | ENSG00000140022.14 | transcript | ENST00000614646.5 | protein_coding | 5/7 | chr14 | TogoVar | ||||||
STON2_chr14_81255652_81405324 | 81320429 | G | GACCATTT others(2692): Show |
intron_variant | MODIFIER | NA18994.hp1 | a0003 | a0003c0003 | a0003c0003t0022 | a0003c0003t0022g0040 | 1 | 264 | 0.0038 | 2699 | c.742 others(2716): Show |
STON2 | ENSG00000140022.14 | transcript | ENST00000614646.5 | protein_coding | 5/7 | chr14 | TogoVar | ||||||
TAF11L9_chr5_17588798_17599394 | 17598414 | T | TCTCCACA others(2692): Show |
upstream_gene_variant | MODIFIER | NA19087.hp1 | a0001 | a0001c0001 | a0001c0001t0000 | a0001c0001t0000g0000 | 1 | 112 | 0.0089 | 2699 | c.-40 others(2710): Show |
TAF11L9 | ENSG00000283988.1 | transcript | ENST00000639969.1 | protein_coding | 4021 | chr5 | TogoVar | ||||||
ZNF229_chr19_44421254_44453472 | 44449685 | T | TGAAAGGT others(2692): Show |
upstream_gene_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0017 | 1 | 433 | 0.0023 | 2699 | c.-16 others(2710): Show |
ZNF229 | ENSG00000278318.5 | transcript | ENST00000614049.5 | protein_coding | 1214 | chr19 | TogoVar | ||||||
ZNF229_chr19_44421254_44453472 | 44449685 | T | TGAAAGGT others(2692): Show |
upstream_gene_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0080 | 1 | 433 | 0.0023 | 2699 | c.-16 others(2710): Show |
ZNF229 | ENSG00000278318.5 | transcript | ENST00000614049.5 | protein_coding | 1214 | chr19 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 802080 | C | CGTCCTCA others(2693): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0003 | a0003c0005 | a0003c0005t0002 | a0003c0005t0002g0031 | 1 | 40 | 0.0250 | 2700 | c.18+ others(2717): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
HPCAL1_chr2_10297904_10432604 | 10399280 | T | TCACCACC others(2693): Show |
intron_variant | MODIFIER | NA18943.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0080 | 1 | 314 | 0.0032 | 2700 | c.-25 others(2717): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ILRUN_chr6_34582288_34701767 | 34699689 | T | TAAAAATG others(2693): Show |
upstream_gene_variant | MODIFIER | HG01074.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0234 | 1 | 316 | 0.0032 | 2700 | c.-30 others(2711): Show |
ILRUN | ENSG00000196821.10 | transcript | ENST00000374023.8 | protein_coding | 2923 | chr6 | TogoVar | ||||||
MAST4_chr5_66591393_67174593 | 67036257 | T | TAGAAATT others(2693): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0002 | a0002c0023 | a0002c0023t0010 | a0002c0023t0010g0100 | 1 | 108 | 0.0093 | 2700 | c.675 others(2719): Show |
MAST4 | ENSG00000069020.19 | transcript | ENST00000403625.7 | protein_coding | 4/28 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
NKX1-1_chr4_1397932_1411442 | 1398482 | C | CGGGTGCT others(2693): Show |
downstream_gene_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0000 | a0001c0001t0000g0001 | 1 | 382 | 0.0026 | 2700 | c.*44 others(2711): Show |
NKX1-1 | ENSG00000235608.2 | transcript | ENST00000422806.2 | protein_coding | 4449 | chr4 | TogoVar | ||||||
SLC12A8_chr3_125077644_125217748 | 125089785 | C | CTCAAGCA others(2693): Show |
intron_variant | MODIFIER | HG02572.hp2 HG02717.hp1 HG02717.hp2 others(1): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0002a0001c0001t0029a0003c0003t0002 | a0001c0001t0002g0098a0001c0001t0002g0130a0001c0001t0029g0361others(1): Show | 4 | 362 | 0.0111 | 2700 | c.192 others(2719): Show |
SLC12A8 | ENSG00000221955.11 | transcript | ENST00000469902.6 | protein_coding | 12/13 | chr3 | TogoVar | ||||||
SLC12A8_chr3_125077644_125217748 | 125089785 | C | CTCAAGCA others(2693): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0338 | 1 | 362 | 0.0028 | 2700 | c.192 others(2719): Show |
SLC12A8 | ENSG00000221955.11 | transcript | ENST00000469902.6 | protein_coding | 12/13 | chr3 | TogoVar | ||||||
SPAAR_chr9_35904490_35916686 | 35913964 | T | TAGTGTGT others(2693): Show |
downstream_gene_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0003 | 1 | 420 | 0.0024 | 2700 | c.*32 others(2711): Show |
SPAAR | ENSG00000235387.5 | transcript | ENST00000443779.3 | protein_coding | 2279 | chr9 | TogoVar | ||||||
SPAAR_chr9_35904490_35916686 | 35913964 | T | TAGTGTGT others(2693): Show |
downstream_gene_variant | MODIFIER | HG01516.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0001 | 1 | 420 | 0.0024 | 2700 | c.*32 others(2711): Show |
SPAAR | ENSG00000235387.5 | transcript | ENST00000443779.3 | protein_coding | 2279 | chr9 | TogoVar | ||||||
SPECC1_chr17_20004359_20324026 | 20038315 | A | AACTTTTT others(2693): Show |
intron_variant | MODIFIER | HG04184.hp1 | a0003 | a0003c0004 | a0003c0004t0110 | a0003c0004t0110g0083 | 1 | 250 | 0.0040 | 2700 | c.-22 others(2719): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
SPECC1_chr17_20004359_20324026 | 20038315 | A | AACTTTTT others(2693): Show |
intron_variant | MODIFIER | NA18612.hp2 | a0003 | a0003c0004 | a0003c0004t0003 | a0003c0004t0003g0089 | 1 | 250 | 0.0040 | 2700 | c.-22 others(2719): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
STON2_chr14_81255652_81405324 | 81320429 | G | GACCATTT others(2693): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0126 | 1 | 264 | 0.0038 | 2700 | c.742 others(2717): Show |
STON2 | ENSG00000140022.14 | transcript | ENST00000614646.5 | protein_coding | 5/7 | chr14 | TogoVar | ||||||
STON2_chr14_81255652_81405324 | 81320429 | G | GACCATTT others(2693): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(37): Show |
a0001a0002a0014 | a0001c0001a0002c0002a0014c0018 | a0001c0001t0002a0001c0001t0008a0001c0001t0009others(16): Show | a0001c0001t0002g0007a0001c0001t0002g0018a0001c0001t0002g0039others(37): Show | 40 | 264 | 0.1515 | 2700 | c.742 others(2717): Show |
STON2 | ENSG00000140022.14 | transcript | ENST00000614646.5 | protein_coding | 5/7 | chr14 | TogoVar | ||||||
STON2_chr14_81255652_81405324 | 81320429 | G | GACCATTT others(2693): Show |
intron_variant | MODIFIER | NA18974.hp2 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0244 | 1 | 264 | 0.0038 | 2700 | c.742 others(2717): Show |
STON2 | ENSG00000140022.14 | transcript | ENST00000614646.5 | protein_coding | 5/7 | chr14 | TogoVar | ||||||
STON2_chr14_81255652_81405324 | 81320429 | G | GACCATTT others(2693): Show |
intron_variant | MODIFIER | HG02040.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0149 | 1 | 264 | 0.0038 | 2700 | c.742 others(2717): Show |
STON2 | ENSG00000140022.14 | transcript | ENST00000614646.5 | protein_coding | 5/7 | chr14 | TogoVar | ||||||
STON2_chr14_81255652_81405324 | 81320429 | G | GACCATTT others(2693): Show |
intron_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0201 | 1 | 264 | 0.0038 | 2700 | c.742 others(2717): Show |
STON2 | ENSG00000140022.14 | transcript | ENST00000614646.5 | protein_coding | 5/7 | chr14 | TogoVar | ||||||
STON2_chr14_81255652_81405324 | 81320429 | G | GACCATTT others(2693): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0067 | a0001c0001t0067g0074 | 1 | 264 | 0.0038 | 2700 | c.742 others(2717): Show |
STON2 | ENSG00000140022.14 | transcript | ENST00000614646.5 | protein_coding | 5/7 | chr14 | TogoVar | ||||||
STON2_chr14_81255652_81405324 | 81320429 | G | GACCATTT others(2693): Show |
intron_variant | MODIFIER | NA19062.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0176 | 1 | 264 | 0.0038 | 2700 | c.742 others(2717): Show |
STON2 | ENSG00000140022.14 | transcript | ENST00000614646.5 | protein_coding | 5/7 | chr14 | TogoVar | ||||||
STON2_chr14_81255652_81405324 | 81320429 | G | GACCATTT others(2693): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0002 | a0002c0002 | a0002c0002t0020 | a0002c0002t0020g0193 | 1 | 264 | 0.0038 | 2700 | c.742 others(2717): Show |
STON2 | ENSG00000140022.14 | transcript | ENST00000614646.5 | protein_coding | 5/7 | chr14 | TogoVar | ||||||
TAF11L9_chr5_17588798_17599394 | 17598414 | T | TCTCCCAC others(2693): Show |
upstream_gene_variant | MODIFIER | HG02897.hp2 | a0001 | a0001c0001 | a0001c0001t0000 | a0001c0001t0000g0000 | 1 | 112 | 0.0089 | 2700 | c.-40 others(2711): Show |
TAF11L9 | ENSG00000283988.1 | transcript | ENST00000639969.1 | protein_coding | 4021 | chr5 | TogoVar | ||||||
TAF11L9_chr5_17588798_17599394 | 17598414 | T | TCTCCCAC others(2693): Show |
upstream_gene_variant | MODIFIER | NA18969.hp1 | a0001 | a0001c0001 | a0001c0001t0000 | a0001c0001t0000g0000 | 1 | 112 | 0.0089 | 2700 | c.-40 others(2711): Show |
TAF11L9 | ENSG00000283988.1 | transcript | ENST00000639969.1 | protein_coding | 4021 | chr5 | TogoVar | ||||||
TMEM120B_chr12_121707752_121787068 | 121748063 | G | GCACTGGG others(2693): Show |
intron_variant | MODIFIER | HG01169.hp2 | a0001 | a0001c0001 | a0001c0001t0080 | a0001c0001t0080g0150 | 1 | 314 | 0.0032 | 2700 | c.189 others(2715): Show |
TMEM120B | ENSG00000188735.13 | transcript | ENST00000449592.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AHRR_chr5_316714_443285 | 344509 | T | TGTGTGTG others(2694): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0003 | a0003c0004 | a0003c0004t0012 | a0003c0004t0012g0195 | 1 | 268 | 0.0037 | 2701 | c.62+ others(2714): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
C2CD4C_chr19_400445_414147 | 411045 | C | CCTGCTGG others(2694): Show |
upstream_gene_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0002 | a0001c0002t0029 | a0001c0002t0029g0038 | 1 | 322 | 0.0031 | 2701 | c.-20 others(2712): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 1899 | chr19 | TogoVar | ||||||
C2orf80_chr2_208160347_208195030 | 208168760 | T | TAAGAAAG others(2694): Show |
intron_variant | MODIFIER | NA18991.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0300 | 1 | 342 | 0.0029 | 2701 | c.573 others(2718): Show |
C2orf80 | ENSG00000188674.11 | transcript | ENST00000341287.9 | protein_coding | 8/8 | chr2 | TogoVar | ||||||
CNTN5_chr11_99015949_100363885 | 99819301 | T | TTCCCTCC others(2694): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0027 | 1 | 66 | 0.0152 | 2701 | c.56- others(2714): Show |
CNTN5 | ENSG00000149972.12 | transcript | ENST00000524871.6 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
F13A1_chr6_6139084_6325662 | 6262095 | G | GTGACCCT others(2694): Show |
intron_variant | MODIFIER | HG03491.hp2 HG03492.hp2 |
a0008 | a0008c0010 | a0008c0010t0002 | a0008c0010t0002g0001 | 2 | 292 | 0.0069 | 2701 | c.571 others(2718): Show |
F13A1 | ENSG00000124491.16 | transcript | ENST00000264870.8 | protein_coding | 4/14 | chr6 | TogoVar | ||||||
MAST4_chr5_66591393_67174593 | 67036257 | T | TAGAAATT others(2694): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0002 | a0002c0005 | a0002c0005t0025 | a0002c0005t0025g0106 | 1 | 108 | 0.0093 | 2701 | c.675 others(2720): Show |
MAST4 | ENSG00000069020.19 | transcript | ENST00000403625.7 | protein_coding | 4/28 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PAK2_chr3_196734857_196837647 | 196811197 | T | TCCTCCCT others(2694): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0150 | 1 | 178 | 0.0056 | 2701 | c.773 others(2716): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
SLC25A18_chr22_17558498_17595995 | 17577684 | C | CATTCTCC others(2694): Show |
intron_variant | MODIFIER | HG01257.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0288 | 1 | 410 | 0.0024 | 2701 | c.-20 others(2720): Show |
SLC25A18 | ENSG00000182902.14 | transcript | ENST00000327451.11 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
SLC25A18_chr22_17558498_17595995 | 17577684 | C | CATTCTCC others(2694): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0204 | 1 | 410 | 0.0024 | 2701 | c.-20 others(2720): Show |
SLC25A18 | ENSG00000182902.14 | transcript | ENST00000327451.11 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
SLC25A18_chr22_17558498_17595995 | 17577684 | C | CATTCTCC others(2694): Show |
intron_variant | MODIFIER | HG02165.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0187 | 1 | 410 | 0.0024 | 2701 | c.-20 others(2720): Show |
SLC25A18 | ENSG00000182902.14 | transcript | ENST00000327451.11 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
SPECC1_chr17_20004359_20324026 | 20038315 | A | AACTTTTT others(2694): Show |
intron_variant | MODIFIER | NA19066.hp1 | a0003 | a0003c0004 | a0003c0004t0011 | a0003c0004t0011g0077 | 1 | 250 | 0.0040 | 2701 | c.-22 others(2720): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
STON2_chr14_81255652_81405324 | 81320429 | G | GACCATTT others(2694): Show |
intron_variant | MODIFIER | HG01175.hp1 HG01256.hp1 HG02523.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0009a0001c0001t0010others(1): Show | a0001c0001t0002g0075a0001c0001t0002g0151a0001c0001t0009g0116others(2): Show | 5 | 264 | 0.0189 | 2701 | c.742 others(2718): Show |
STON2 | ENSG00000140022.14 | transcript | ENST00000614646.5 | protein_coding | 5/7 | chr14 | TogoVar | ||||||
STON2_chr14_81255652_81405324 | 81320429 | G | GACCATTT others(2694): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00673.hp2 HG02027.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0009a0001c0001t0010a0001c0001t0065others(2): Show | a0001c0001t0009g0049a0001c0001t0010g0048a0001c0001t0065g0050others(4): Show | 7 | 264 | 0.0265 | 2701 | c.742 others(2718): Show |
STON2 | ENSG00000140022.14 | transcript | ENST00000614646.5 | protein_coding | 5/7 | chr14 | TogoVar | ||||||
STON2_chr14_81255652_81405324 | 81320429 | G | GACCATTT others(2694): Show |
intron_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0203 | 1 | 264 | 0.0038 | 2701 | c.742 others(2718): Show |
STON2 | ENSG00000140022.14 | transcript | ENST00000614646.5 | protein_coding | 5/7 | chr14 | TogoVar | ||||||
STON2_chr14_81255652_81405324 | 81320429 | G | GACCATTT others(2694): Show |
intron_variant | MODIFIER | NA18980.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0041 | 1 | 264 | 0.0038 | 2701 | c.742 others(2718): Show |
STON2 | ENSG00000140022.14 | transcript | ENST00000614646.5 | protein_coding | 5/7 | chr14 | TogoVar | ||||||
STON2_chr14_81255652_81405324 | 81320429 | G | GACCATTT others(2694): Show |
intron_variant | MODIFIER | NA18979.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0175 | 1 | 264 | 0.0038 | 2701 | c.742 others(2718): Show |
STON2 | ENSG00000140022.14 | transcript | ENST00000614646.5 | protein_coding | 5/7 | chr14 | TogoVar | ||||||
UBR2_chr6_42559029_42698505 | 42574863 | T | TAATTTTT others(2694): Show |
intron_variant | MODIFIER | NA18962.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0241 | 1 | 342 | 0.0029 | 2701 | c.338 others(2716): Show |
UBR2 | ENSG00000024048.11 | transcript | ENST00000372901.2 | protein_coding | 2/46 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ALDH16A1_chr19_49448225_49476050 | 49461541 | G | GAGTCTGG others(2695): Show |
intron_variant | MODIFIER | HG02129.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0158 | 1 | 342 | 0.0029 | 2702 | c.578 others(2715): Show |
ALDH16A1 | ENSG00000161618.10 | transcript | ENST00000293350.9 | protein_coding | 5/16 | chr19 | TogoVar |